About: early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation     Goto   Sponge   NotDistinct   Permalink

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human disease

AttributesValues
rdf:type
description
  • human disease (en)
  • хвороба людини (uk)
exact match
exact match
Mondo ID
Mondo ID
Mondo ID
  • MONDO_0017325
rdfs:label
  • early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (en)
skos:prefLabel
  • early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (en)
name
  • early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (en)
instance of
instance of
subclass of
subclass of
Orphanet ID
ICD-10-CM
OMIM ID
Orphanet ID
  • 289266
ICD-10-CM
  • E72.1
OMIM ID
  • 613971
skos:altLabel
  • epilepsy, focal, with speech disorder and with or without mental retardation (en)
NCI Thesaurus ID
NCI Thesaurus ID
  • C168598
is about of
is established from medical condition of
is established from medical condition of
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